Lifton RP - Search Results

1

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

Scholl UI, Stölting G, Schewe J, Thiel A, Tan H, Nelson-Williams C, Vichot AA, Jin SC, Loring E, Untiet V, Yoo T, Choi J, Xu S, Wu A, Kirchner M, Mertins P, Rump LC, Onder AM, Gamble C, McKenney D, Lash RW, Jones DP, Chune G, Gagliardi P, Choi M, Gordon R, Stowasser M, Fahlke C, Lifton RP. Scholl UI, et al. Among authors: lifton rp. Nat Genet. 2018 Mar;50(3):349-354. doi: 10.1038/s41588-018-0048-5. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403011 Free PMC article.

2

Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase.

Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR Jr, Feld L, Ganguly A, Laidlaw JC, et al. Lifton RP, et al. Nat Genet. 1992 Sep;2(1):66-74. doi: 10.1038/ng0992-66. Nat Genet. 1992. PMID: 1303253

3

A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.

Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. Lifton RP, et al. Nature. 1992 Jan 16;355(6357):262-5. doi: 10.1038/355262a0. Nature. 1992. PMID: 1731223

4

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton RP. Hansson JH, et al. Among authors: lifton rp. Nat Genet. 1995 Sep;11(1):76-82. doi: 10.1038/ng0995-76. Nat Genet. 1995. PMID: 7550319

5

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. Hansson JH, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9. doi: 10.1073/pnas.92.25.11495. Proc Natl Acad Sci U S A. 1995. PMID: 8524790 Free PMC article.

6

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.

Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. Simon DB, et al. Among authors: lifton rp. Nat Genet. 1996 Jan;12(1):24-30. doi: 10.1038/ng0196-24. Nat Genet. 1996. PMID: 8528245

7

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Chang SS, Grunder S, Hanukoglu A, Rösler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP. Chang SS, et al. Among authors: lifton rp. Nat Genet. 1996 Mar;12(3):248-53. doi: 10.1038/ng0396-248. Nat Genet. 1996. PMID: 8589714

8

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans.

Gunel M, Awad IA, Finberg K, Anson JA, Steinberg GK, Batjer HH, Kopitnik TA, Morrison L, Giannotta SL, Nelson-Williams C, Lifton RP. Gunel M, et al. Among authors: lifton rp. N Engl J Med. 1996 Apr 11;334(15):946-51. doi: 10.1056/NEJM199604113341503. N Engl J Med. 1996. PMID: 8596595 Free article.

9

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP. Simon DB, et al. Among authors: lifton rp. Nat Genet. 1996 Jun;13(2):183-8. doi: 10.1038/ng0696-183. Nat Genet. 1996. PMID: 8640224

10

Genetic heterogeneity of inherited cerebral cavernous malformation.

Günel M, Awad IA, Finberg K, Steinberg GK, Craig HD, Cepeda O, Nelson-Williams C, Lifton RP. Günel M, et al. Among authors: lifton rp. Neurosurgery. 1996 Jun;38(6):1265-71. doi: 10.1097/00006123-199606000-00059. Neurosurgery. 1996. PMID: 8727164

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